ALG8-CDG

A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

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Aliases

• ALG8-CDG
• ALG8-CDG (CDG-Ih)
• Carbohydrate deficient glycoprotein syndrome type Ih
• carbohydrate deficient glycoprotein syndrome type Ih
• CDG 1H
• CDG Ih
• CDG syndrome type Ih
• CDG-Ih
• CDG1H
• Congenital disorder of glycosylation type 1h
• congenital disorder of glycosylation type 1h
• Congenital disorder of glycosylation type Ih
• congenital disorder of glycosylation type Ih
• congenital disorder of glycosylation, type Ih
• Glucosyltransferase 2 deficiency
• glucosyltransferase 2 deficiency